Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
Nat Genet
; 43(6): 527-9, 2011 Jun.
Article
em En
| MEDLINE
| ID: mdl-21552266
ABSTRACT
Using exome sequencing and a variant prioritization strategy that focuses on loss-of-function variants, we identified biallelic, loss-of-function CEP57 mutations as a cause of constitutional mosaic aneuploidies. CEP57 is a centrosomal protein and is involved in nucleating and stabilizing microtubules. Our findings indicate that these and/or additional functions of CEP57 are crucial for maintaining correct chromosomal number during cell division.
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Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
/
Proteínas Associadas aos Microtúbulos
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Mutação
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article